loading...| Preferred Name |
Hajdu-Cheney syndrome |
|
| Synonyms |
Acroosteolysis with osteoporosis and changes in skull and mandible |
|
| Definitions |
A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_955 |
|
| alternative_term |
Acroosteolysis with osteoporosis and changes in skull and mandible Cheney syndrome Arthrodentoosteodysplasia Acroosteolysis dominant type |
|
| definition |
A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 |
|
| has_age_of_onset |
Childhood Infancy |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
OMIM:102500 MeSH:D031845 ICD-11:FB86.2 ICD-10:M89.5 UMLS:C0917715 OMIM:102400 |
|
| label |
Hajdu-Cheney syndrome |
|
| notation |
ORPHA:955 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_486955 http://www.orpha.net/ORDO/Orphanet_182231 |
|
| prefixIRI |
ORDO:Orphanet_955 |
|
| prefLabel |
Hajdu-Cheney syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_486955 http://www.orpha.net/ORDO/Orphanet_182231 |
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| subClassOf |